Chiharu Torii - AILBRY - Article Search

Results for 'Chiharu Torii' :

Split hand foot malformation with whorl‐like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation

Publication Year: 2008

DOI: https://doi.org/10.1002/ajmg.a.32415

Abstract:

Authors:
- Rika Kosaki
- Yoko Naito
- Chiharu Torii
- Takao Takahashi
- Tatsuo Nakajima
- Kenjiro Kosaki
Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

Publication Year: 2010

DOI: https://doi.org/10.1002/ajmg.a.33121

Abstract:

Authors:
- Kosuke Izumi
- Hironobu Okuno
- Katsuhiro Maeyama
- Seiji Sato
- Toshiyuki Yamamoto
- Chiharu Torii
- Rika Kosaki
- Takao Takahashi
- Kenjiro Kosaki
Tissue‐limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome

Publication Year: 2012

DOI: https://doi.org/10.1002/ajmg.a.35230

Abstract:

Authors:
- Toshiki Takenouchi
- Tatsuhiko Yagihashi
- Hiroyuki Tsuchiya
- Chiharu Torii
- Kumiko Hayashi
- Rika Kosaki
- Shinji Saitoh
- Takao Takahashi
- Kenjiro Kosaki
Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma

Publication Year: 2011

DOI: https://doi.org/10.1002/ajmg.a.33967

Abstract:

Authors:
- Rika Kosaki
- Hideki Fujita
- Hazuki Takada
- Michiyo Okada
- Chiharu Torii
- Kenjiro Kosaki
Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement

Publication Year: 2010

DOI: https://doi.org/10.1002/ajmg.a.33382

Abstract:

Authors:
- Rika Kosaki
- Shintaro Kikuchi
- Goro Koinuma
- Masataka Higuchi
- Chiharu Torii
- Kazuteru Kawasaki
- Kenjiro Kosaki
Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

Publication Year: 2011

DOI: https://doi.org/10.1002/ajmg.a.33835

Abstract:

Authors:
- Rika Kosaki
- Hideki Fujita
- Katsuhiko Ueoka
- Chiharu Torii
- Kenjiro Kosaki
Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

Publication Year: 2010

DOI: https://doi.org/10.1002/ajmg.a.33151

Abstract:

Authors:
- Hideki Fujita
- Tadahiro Yanagi
- Rika Kosaki
- Chiharu Torii
- Masahiro Bamba
- Takao Takahashi
- Kenjiro Kosaki
Daytime somnolence in an adult with smith–magenis syndrome

Publication Year: 2013

DOI: https://doi.org/10.1002/ajmg.a.35936

Abstract:

Authors:
- Toshiki Takenouchi
- Hideyuki Saito
- Naoki Oishi
- Hiroyuki Fukushima
- Rika Kosaki
- Chiharu Torii
- Takao Takahashi
- Kenjiro Kosaki
Mosaic overgrowth with fibroadipose hyperplasia due toAKT1mutation

Publication Year: 2015

DOI: https://doi.org/10.1002/ajmg.a.36947

Abstract:

Authors:
- Toshiki Takenouchi
- Yoshiaki Sakamoto
- Chiharu Torii
- Kenichiro Hata
- Rika Kosaki
- Kenjiro Kosaki
Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

Publication Year: 2014

DOI: https://doi.org/10.1016/j.jpeds.2014.10.015

Abstract:

Authors:
- Toshiki Takenouchi
- Yu Yamaguchi
- Akiko Tanikawa
- Rika Kosaki
- Hideyuki Okano
- Kenjiro Kosaki
Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Publication Year: 2010

DOI: https://doi.org/10.1002/ajmg.a.33511

Abstract:

Authors:
- Kosuke Izumi
- Masaki Takagi
- Aditi Parikh
- Amanda Hahn
- Shana Miskovsky
- Gen Nishimura
- Chiharu Torii
- Kenjiro Kosaki
- Tomonobu Hasegawa
- Derek Neilson
Feeding Behavior and Future Fecundity in Drosophila

Publication Year: 1986

DOI: https://doi.org/10.1086/284473

Abstract:

Authors:
- John Jaenike
EEC syndrome‐like phenotype in a patient with an IRF6 mutation

Publication Year: 2012

DOI: https://doi.org/10.1002/ajmg.a.35273

Abstract:

Authors:
- Rika Kosaki
- Tsuyoshi Kaneko
- Chiharu Torii
- Kenjiro Kosaki
Extraction of <scp>DNA</scp> from human embryos after long‐term preservation in formalin and <scp>B</scp>ouin's solutions

Publication Year: 2015

DOI: https://doi.org/10.1111/cga.12148

Abstract:

Authors:
- Momoko Nagai
- Katsura Minegishi
- Munekazu Komada
- Maiko Tsuchiya
- Tomomi Kameda
- Shigehito Yamada
Effects of angiotensin receptor blockade (ARB) on mortality and cardiovascular outcomes in patients with long-term haemodialysis: a randomized controlled trial

Publication Year: 2013

DOI: https://doi.org/10.1093/ndt/gfs590

Abstract:

Authors:
- Kunitoshi Iseki
- H. Arima
- Kentaro Kohagura
- Ichiro Komiya
- Shinichiro Ueda
- Kunpei Tokuyama
- Yoshiki Shiohira
- H Uehara
- Shigeki Toma
- Naoki Tomiyama
- H. Arima
- S Chinen
- Kunihiko Tokashiki
- A. Hirano-Nakasone
- Chiyo Nohara
- Shinichiro Ueda
- Shinichiro Ueda
- Kentaro Kohagura
- Shigeki Toma
- Takeshi Tana
- Akira Higa
- Masanobu Yamazato
- Yuko Ishida
- Kunpei Tokuyama
- Naoko Nagayoshi
- Shigehito Miyagi
- Tsuyoshi Asato
- Ryohei Kobayashi
- Yoshiki Shiohira
- Tasuku Yonaha
- Yoshinao Uezu
- Noriko Kuwae
- Shigeki NAKASATO
- Y. Oshiro
- Kazutaka Nashiro
- Tsuyoshi Asato
- H. Katsuren
- Hiroshi Kagawa
- K. Naika-Geka
- Takeshi Higa
- Masahide Ikema
- Kenri Akamine
- Morikazu Nishihira
- Masahide Jahana
- Chigusa Imai
- Tasuku Yonaha
- Makoto Ikemura
- Masami Uechi
- Masanobu Yamazato
- Kazutaka Yoshihara
- Motoko Arakaki
- Kiyoshi Iha
- H. Afuso
- S. Kiyuna
- K Shiroma
- Takayuki Miyara
- Maki Itokazu
- Tamayo Naka
- Sadahiro Naka
- Eriko Yamaguchi
- Yuina Uechi
- T. Kowatari
- Hiroyuki Yamada
- S. Yoshi
- Hiroshi Sunagawa
- Masahiko Tozawa
- Masami Uechi
- M E Adaniya
- H. Afuso
- H Uehara
- H. Miyazato
- C. Sakuda
- Tomohiko Taminato
- Hugo Uchima
- Yoshiyuki Nakasone
- Tomohiro Funakoshi
- Masamitsu Nakazato
- N. Nagata
- Shinichi MIYAZATO
- H. Katsuren
- T Miyagi
- Hiroshi Hirano
- Katsunori Iwashiro
- Toshiya Sunagawa
- Hiroyuki Yoshida
- Y. Oshiro
- T. Shimabukuro
- Takashi Oura
- Hideho Henzan
- I. Kyan
- Sakiko Maeshiro
- Toru Wake
- Scott T. Tagawa
- Taku Inoue
- Takashi Tokashiki
- Hiroko Ishii
- Shigehito Miyagi
- Shuichi Takishita
- Shigeru Saito
- Kunihiko Shimizu

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AILBRY - Article Search

Results for 'Chiharu Torii' :

Split hand foot malformation with whorl‐like pigmentary pattern: Phenotypic expression of somatic mosaicism for the <i>p63</i> mutation

Interstitial microdeletion of 4p16.3: Contribution of <i>WHSC1</i> haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

Tissue‐limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome

Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma

Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

Daytime somnolence in an adult with smith–magenis syndrome

Mosaic overgrowth with fibroadipose hyperplasia due to<i>AKT1</i>mutation

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Feeding Behavior and Future Fecundity in Drosophila

EEC syndrome‐like phenotype in a patient with an <i>IRF6</i> mutation

Extraction of <scp>DNA</scp> from human embryos after long‐term preservation in formalin and <scp>B</scp>ouin's solutions

Effects of angiotensin receptor blockade (ARB) on mortality and cardiovascular outcomes in patients with long-term haemodialysis: a randomized controlled trial

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